ClinVar Miner

Submissions for variant NM_000482.3(APOA4):c.748G>A (p.Glu250Lys)

gnomAD frequency: 0.00029  dbSNP: rs121909576
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556049 SCV004280456 benign not provided 2023-05-23 criteria provided, single submitter clinical testing
OMIM RCV000019496 SCV000039793 other APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 2016-04-20 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.